gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129486534C>T , CM000668.2:g.129486534C>T | GRCh38 |
| NC_000006.11:g.129807679C>T , CM000668.1:g.129807679C>T | GRCh37 |
| NC_000006.10:g.129849372C>T | NCBI36 |
| NG_008678.1:g.608394C>T , LRG_409:g.608394C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.7798C>T | ENSP00000481744.2:p.Arg2600Ter | |
| ENST00000618192.5:c.8074C>T | ENSP00000480802.2:p.Arg2692Ter | |
| ENST00000688198.1:n.788C>T | ||
| ENST00000421865.3:c.7810C>T MANE Select | ENSP00000400365.2:p.Arg2604Ter | |
| ENST00000421865.2:c.7810C>T | ENSP00000400365.2:p.Arg2604Ter | |
| ENST00000617695.4:c.7798C>T | ENSP00000481744.1:p.Arg2600Ter | |
| ENST00000618192.4:c.7807C>T | ENSP00000480802.1:p.Arg2603Ter | |
| NM_000426.3:c.7810C>T , LRG_409t1:c.7810C>T | NP_000417.2:p.Arg2604Ter | |
| NM_001079823.1:c.7798C>T | NP_001073291.1:p.Arg2600Ter | |
| XM_005266981.2:c.8074C>T | XP_005267038.1:p.Arg2692Ter | |
| XM_005266982.2:c.8062C>T | XP_005267039.1:p.Arg2688Ter | |
| XM_011535820.1:c.8068C>T | XP_011534122.1:p.Arg2690Ter | |
| XM_005266981.3:c.8074C>T | XP_005267038.1:p.Arg2692Ter | |
| XM_005266982.3:c.8062C>T | XP_005267039.1:p.Arg2688Ter | |
| XM_011535820.2:c.8068C>T | XP_011534122.1:p.Arg2690Ter | |
| XM_017010851.2:c.8080C>T | XP_016866340.1:p.Arg2694Ter | |
| XM_017010852.1:c.6205C>T | XP_016866341.1:p.Arg2069Ter | |
| NM_000426.4:c.7810C>T MANE Select | NP_000417.3:p.Arg2604Ter | |
| NM_001079823.2:c.7798C>T | NP_001073291.2:p.Arg2600Ter |